Parents: Oren & Emily
Year of Birth: 2009
Hometown & Country: New Jersey, USA
A Message from Rayne’s Parents:
Rayne was our first child, born post-date via c-section and was almost immediately taken to the NICU because she was desaturating. In the NICU, doctors also saw that she was having trouble feeding and an NG tube was placed. During her initial exam, her ‘cloudy corneas’ were noted, as was as a left superior vena cava with her heart. After two weeks in the NICU, Rayne finally came home, but her troubles persisted. Rayne continued to desaturate and struggled to eat. At three months, Rayne underwent her first of two corneal transplants (we learned that the backs of her eyes didn’t develop normally either), which was soon followed by gut malrotation surgery, a g-tube placement and finally her second corneal transplant. In Rayne’s first months, we spent more time living out of various hospitals across several states than we did at home, mainly due to her gut not working/common illnesses that would quickly escalate and her extended recoveries from surgeries. We eventually learned that Rayne also suffers intermittent hypoglycemia (even while on a continuous feed).
As Rayne’s constellation of symptoms grew over her first few months and then years, doctors became increasingly baffled. After a series of ear infections triggered a regression across all areas of her motor development, Rayne was tested–and then received a diagnosis-for Mitochondrial DNA depletion. Years later, when Rayne was five, we received confirmation via Exome Sequencing of her RARB mutation. To date, we do not know of any other children with Rayne’s specific mutation.
Developmentally, Rayne is globally delayed. She cannot sit unassisted, walk (bear weight through her legs), talk, eat or see (though, she may see some light with her left eye). Still, Rayne’s strong personality shines through. She loves to listen to music and play with her musical toys. She also loves walks outside and snuggling. She has a deep belly laugh, an adorable dimple on her left cheek and a devilish sense-of-humor. She likes to give her therapists at school a hard time and has developed a special relationship with one of the nurses who has helped us care for Rayne since she was three. Hospital stays are still a part of Rayne’s life, but are less frequent now than years ago. At her core, Rayne is a fighter with strong opinions and easy “thank-you’s” (communicated in her own way). To all who have already met her, Rayne is especially memorable.
What are our Dreams for Rayne?
There are so many. But for purposes here, I think that our dream for our daughter is for as many people as possible to know Rayne and her story. Like many of us do for ourselves, our dream is for Rayne to leave her own mark, in her own way, on the world.